Varaico: Literature-Extracted Genetic Variants

Gene:PRAM1
Variant:p.D503E

PRAM1

92 papers

RefSeq Summary

The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal...

Pfam Domains

hSH3aa 576–665UCSCHelically-extended SH3 domain

Gene Aliases

HGNC Name

PML-RARA regulated adaptor molecule 1

HGNC Alias Symbol

PML-RAR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_032152.5
p.D503E
c.1509T>A
Surrounding Variants
3 papers
NM_032152.5
p.D503E
c.1509T>G
1 paper
NM_032152.5
p.I498T
c.1493T>C
1 paper
NM_032152.5
p.T482N
c.1445C>A
1 paper
NM_032152.5
p.D478V
c.1433A>T
1 paper
NM_032152.5
p.V464M
c.1390G>A
1 paper
NM_032152.5
p.P457L
c.1370C>T
1 paper
NM_032152.5
p.S449insFs
c.1346_1347insA
1 paper
NM_032152.5
p.R434I
c.1301G>T
1 paper
NM_032152.5
p.S426I
c.1277G>T
1 paper
NM_032152.5
p.P405L
c.1214C>T
1 paper
NM_032152.5
p.L393P
c.1178T>C
3 papers
NM_032152.5
p.S387P
c.1159T>C
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